Forms and Documents
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancie
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 796.6 Abnormal findings on neonatal screening
- 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Item et al., (2007) Mol Genet Metab 91:379-383.
- Tomoeda et al., (2000) Mol Genet Metab 71:506-510.
- Ruetschi et al., (2000) Hum Genet 106:654-662.